A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6285527



Internal ID9806814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233739685..233751342hg38UCSC Ensembl
chr2:234648331..234659988hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811658
hg1911658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674451
Supporting Variants
SamplesNA19908
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6285527
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer